Evidence Based This post has 28 references

Genetics of Erythropoiesis (Red Blood Cell Creation)

Written by Puya Yazdi, MD | Last updated:

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A mutation in the JAK2 gene is the major cause of Polycythemia Vera or an increased number of red blood cells [1].


GATA1 (GATA binding protein 1 or globin transcription factor 1) is essential for normal red blood cell production (erythropoiesis) [2, 3, 4].

The GATA1 regulates the growth, division, and survival of immature red blood cells and platelets [5, 6, 7].

Mutations in GATA1 cause anemias and thrombocytopenia in human patients [8, 9].

Mutations in this gene are present in almost all cases of acute leukemia associated with Down’s syndrome.


ZFPM1 gene (Zinc finger protein) is also known as FOG1 (friend of GATA1).

ZFPM1 plays an essential role in red blood cell production. Interaction of ZFPM1 with GATA1 is essential for the function of GATA1 in red blood cell growth [10].

STIL (SCL/TAL1 interrupting locus)

STIL plays an essential role in red blood cell production [11, 12, 13].

EKLF1 (Erythroid Kruppel-like Factor 1)

EKLF1 is a gene that is necessary for the proper maturation of red blood cells [14].

EKLF participates in the production of adult globin chains [15].

Mutations in this gene are associated with anemia, β-thalassemia, hereditary persistence of fetal hemoglobin (HPFH), and rare In (Lu) blood group [16, 17, 18, 19, 20].


Erythropoietin (EPO) and its receptor (EPOR) stimulate red blood cell growth and cell division in the bone marrow and the initiation of hemoglobin production [21, 22, 23, 24].

The T allele of SNP rs1617640 in the promoter of the EPO gene is associated with diabetic eye and kidney complications [25].


EPOR (Erythropoietin receptor gene) promotes the proliferation of immature red blood cells and survival [26].

Defects in the EPOR may produce erythroleukemia and familial erythrocytosis (an inherited condition characterized by an increased number of red blood cells and an elevated risk of abnormal blood clots) [27, 28].

About the Author

Puya Yazdi

Puya Yazdi

Dr. Puya Yazdi is a physician-scientist with 14+ years of experience in clinical medicine, life sciences, biotechnology, and nutraceuticals.
As a physician-scientist with expertise in genomics, biotechnology, and nutraceuticals, he has made it his mission to bring precision medicine to the bedside and help transform healthcare in the 21st century. He received his undergraduate education at the University of California at Irvine, a Medical Doctorate from the University of Southern California, and was a Resident Physician at Stanford University. He then proceeded to serve as a Clinical Fellow of The California Institute of Regenerative Medicine at The University of California at Irvine, where he conducted research of stem cells, epigenetics, and genomics. He was also a Medical Director for Cyvex Nutrition before serving as president of Systomic Health, a biotechnology consulting agency, where he served as an expert on genomics and other high-throughput technologies. His previous clients include Allergan, Caladrius Biosciences, and Omega Protein. He has a history of peer-reviewed publications, intellectual property discoveries (patents, etc.), clinical trial design, and a thorough knowledge of the regulatory landscape in biotechnology. He is leading our entire scientific and medical team in order to ensure accuracy and scientific validity of our content and products.

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